Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
DKFZp686A13122
KIAA1564 chromodomain-helicase-DNA-binding protein 2 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
intellectual disability
Epilepsy CHD2-related neurodevelopmental disorder |
| gptkbp:discoveredIn |
1998
|
| gptkbp:Entrez_Gene_ID |
1105
ENSG00000173575 |
| gptkbp:expressedIn |
gptkb:testis
brain |
| gptkbp:fullName |
chromodomain helicase DNA binding protein 2
|
| gptkbp:function |
regulation of transcription
chromatin remodeling |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
1912
|
| https://www.w3.org/2000/01/rdf-schema#label |
CHD2
|
| gptkbp:locatedOnChromosome |
15
|
| gptkbp:mutationAssociatedWith |
loss-of-function
|
| gptkbp:numberOfExons |
38
|
| gptkbp:OMIM |
602119
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Chd2
|
| gptkbp:proteinFamily |
gptkb:CHD_family
|
| gptkbp:symbol |
gptkb:CHD2
|
| gptkbp:UniProtID |
O14647
|
| gptkbp:bfsParent |
gptkb:CHD7
|
| gptkbp:bfsLayer |
7
|